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February New Insights from NUI Galway Genome Editing Study

The primary cilium on a cultured human retinal cell (inset shows a blow-up of the cilium). The cell’s nucleus is stained blue and the cilium is red at its base and green in the extended antenna-like portion, the axoneme. Photo: Yetunde Ogungbenro

Feb132018Posted: 15:03 GMT

Researchers at NUI Galway identify a new function for the gene centrobin that could help understand developmental disorders that affect multiple organs in the body

A new study carried out by researchers from the Centre for Chromosome Biology at NUI Galway, has uncovered a new function for a gene called centrobin that implicates it in human health, with potential roles in the developing heart, kidney and eye, as well as in cancer. The study was published today (13 February 2018) in the prestigious Journal of Cell Biology.

Most cell types in the body carry an antenna-like structure called the primary cilium that detects signals from outside the cell, such as specific molecules or fluid flows. Problems with primary cilia lead to developmental disorders that affect multiple organs in the body, including the kidney, eye, brain and heart. Changes to cells that occur in cancer can also involve primary cilia. In this study the NUI Galway researchers describe a new role in making primary cilia for a gene called centrobin.

The NUI Galway researchers used a cutting-edge technique of genome manipulation, CRISPR, to remove the gene centrobin from human cells, and found that cilium formation was blocked. In collaboration with a group from the University of Ulm, Germany, they found that centrobin loss in zebrafish embryos caused developmental disorders that reflected ciliary problems, such as mis-positioning of the heart or the pancreas.

The study was directed by Professor Ciaran Morrison from the Centre for Chromosome Biology at NUI Galway, who said: “This work is exciting because it suggests that centrobin might play a new role in human health. Much remains to be discovered about how cilia work in the body and our identification of centrobin as a player in this process opens new possibilities for understanding primary cilia.”

The first author of the study was Dr Yetunde Adesanya Ogungbenro, a graduate of Dundalk IT who recently completed her PhD at NUI Galway with postgraduate funding from the Irish Research Council.

Other collaborators involved in the study included Imperial College London, and Mr Pierce Lalor and Professor Peter Dockery from NUI Galway’s Discipline of Anatomy.